Canonical Allele Identifier:
CA13213686
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52642373 (EAS)
Genomes Max Group AF
0.52642373 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6747501C>T , CM000672.2:g.6747501C>T | GRCh38 |
| NC_000010.10:g.6789463C>T , CM000672.1:g.6789463C>T | GRCh37 |
| NC_000010.9:g.6829469C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930621.1:n.314-1438G>A |